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Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome (2025)

First Author: Falabella M

Attributed to: MitoCluster: an integrated phenotyping and mouse model generation platform for mitochondrial disease and dysfunction funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1093/brain/awae268

PubMed Identifier: 39279645

Publication URI: http://europepmc.org/abstract/MED/39279645

Type: Journal Article/Review

Parent Publication: Brain

Issue: 2

ISSN: 14602156 00068950